NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Sep 10, 2021)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000788664.2

Allele description [Variation Report for NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)]

NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)

Genes:
FLNC-AS1:FLNC antisense RNA 1 [Gene - HGNC]
FLNC:filamin C [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q32.1
Genomic location:
Preferred name:
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)
HGVS:
  • NC_000007.14:g.128856546C>T
  • NG_011807.1:g.31118C>T
  • NM_001127487.2:c.7181C>T
  • NM_001458.4:c.7280C>T
  • NM_001458.5:c.7280C>TMANE SELECT
  • NP_001120959.1:p.Ala2394Val
  • NP_001449.3:p.Ala2427Val
  • NP_001449.3:p.Ala2427Val
  • LRG_870t1:c.7280C>T
  • LRG_870:g.31118C>T
  • LRG_870p1:p.Ala2427Val
  • NC_000007.13:g.128496600C>T
Protein change:
A2394V
Links:
dbSNP: rs1343869103
NCBI 1000 Genomes Browser:
rs1343869103
Molecular consequence:
  • NM_001127487.2:c.7181C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.4:c.7280C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001458.5:c.7280C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000927855Blueprint Geneticscriteria provided, single submitter
Uncertain significance
(Aug 14, 2018)
germlineclinical testing

Citation Link,

SCV001981939GeneDxcriteria provided, single submitter
Uncertain significance
(Sep 10, 2021)
germlineclinical testing

Citation Link

Description

Patient analyzed with Hypertrophic Cardiomyopathy (HCM) Panel

SCV000927855

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Blueprint Genetics, SCV000927855.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001981939.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 636749; Landrum et al., 2016); This variant is associated with the following publications: (PMID: 26582918)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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